Canonical Allele Identifier: CA2665697177
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49124939-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49124939A>C , CM000665.2:g.49124939A>C GRCh38
NC_000003.11:g.49162372A>C , CM000665.1:g.49162372A>C GRCh37
NC_000003.10:g.49137376A>C NCBI36
NG_008094.1:g.13228T>G
NG_054716.1:g.1000T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2885-14T>G MANE Select ENSP00000307156.4:n.2885-14T>G
ENST00000305544.8:c.2885-14T>G ENSP00000307156.4:n.2885-14T>G
ENST00000418109.5:c.2885-14T>G ENSP00000388325.1:n.2885-14T>G
ENST00000462930.5:n.292-14T>G
ENST00000464891.5:n.618-14T>G
ENST00000483057.1:n.485-14T>G
ENST00000542580.1:n.200-14T>G
NM_002292.3:c.2885-14T>G NP_002283.3:n.2885-14T>G
XM_005265127.3:c.2885-14T>G XP_005265184.1:n.2885-14T>G
XM_005265127.4:c.2885-14T>G XP_005265184.1:n.2885-14T>G
NM_002292.4:c.2885-14T>G MANE Select NP_002283.3:n.2885-14T>G